ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.81G>A (p.Ala27=)

gnomAD frequency: 0.00003  dbSNP: rs150247726
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469082 SCV000547765 uncertain significance Fanconi anemia 2022-07-26 criteria provided, single submitter clinical testing This sequence change affects codon 27 of the FANCA mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FANCA protein. This variant is present in population databases (rs150247726, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 408190). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237863 SCV002010163 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001764407 SCV002787137 uncertain significance Fanconi anemia complementation group A 2022-03-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV000469082 SCV002093146 uncertain significance Fanconi anemia 2019-10-28 no assertion criteria provided clinical testing

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